Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000214466 | SCV000270223 | likely benign | not specified | 2015-02-19 | criteria provided, single submitter | clinical testing | p.Gln345Lys in exon 7 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 0.2% (135/66722) of European chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs201236317), and the glutamine (Gln) residue at position 345 is not evol utionarily conserved across species, with many species having a lysine (Lys) at this position. |
Eurofins Ntd Llc |
RCV000725783 | SCV000339347 | uncertain significance | not provided | 2016-02-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000725783 | SCV000981400 | likely benign | not provided | 2022-03-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000725783 | SCV001216383 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000725783 | SCV001918216 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000725783 | SCV001973743 | likely benign | not provided | no assertion criteria provided | clinical testing |